Kyphoscoliosis with Klippel-Trenaunay syndrome: a case report and literature review

Abstract

BackgroundKlippel-Trenaunay syndrome (KTS) is a rare congenital syndrome characterized by the triad of venous varicosities, capillary malformations and limb hypertrophy. However, KTS may rarely occur in combination with kyphoscoliosis.Case presentationWe presented an 18-year-old female with KTS and kyphoscoliosis. Hypertrophy of bone and soft tissue affected her left face, trunk and lower limb. Moreover, the patient is associated with subacute thyroiditis, vitamin D deficiency and iron deficiency anemia, high level of D-dimer, swollen tonsil, kyphoscoliosis and Chiari-I-malformation without syringomyelia. A posterior correction and spinal fusion from T10 to L5 levels were performed for this patient. The lumbar curve was corrected from 105° to 60° and the kyphosis improved from 58° to 26°. The distance of trunk shift decreased from 10 cm to 1.4 cm. There were no thrombotic events occurred. At the 8th month follow-up, there was no significantly change of the curve in the coronal and sagittal radiographs. During the 31-month follow-up, the patient did not experience any discomfort. And her general appearance did not have any change until the last follow-up. However, she refused to take radiograph for worrying about radiation.ConclusionsKTS is a rare disease with classic clinical triad. However, it can also have other different features, including kyphoscoliosis, elevated D-Dimer, vitamin D deficiency and iron-deficiency anemia. These issues should be taken into consideration when planning treatment for kyphoscoliosis in KTS patients.

Diagnosis of Klippel-Trenaunay syndrome and extensive heterotopic ossification in a patient with a femoral fracture: a case report and literature review

“…Vascular malformations in KTS usually affect the capillary, venous, and lymphatic systems of the lower extremities, which leads to swelling, varices, and ulcerations of the diseased limb [1]. Elevated D-dimer levels and mutation of the AGGF1 gene are considered to suggest the diagnosis [8]. However, owing to coagulation disorders caused by the fracture in our case, D-dimer was high during hospitalization and could not be considered suggestive of KTS [9].…”

Chiari I malformation with Klippel-Trenaunay syndrome: case report and review of the literature

“…KTS exhibits port-wine stain birthmarks, tissue and bone overgrowth, and vein malformations, with possible lymphatic abnormalities (Fig. 2) [1]. KTS is rare, with an incidence of 1 in 100,000 [1].…”

“…2) [1]. KTS is rare, with an incidence of 1 in 100,000 [1]. Approximately 63% of affected individuals present with three signs or symptoms, usually involving one lower extremity [16,17].…”

“…There are only three other identified KTS cases with CIM lacking syringomyelia, and these shared similar symptoms to our patient. With no KTS family history, they presented with hemihypertrophy, venous varicosities, and general malformations (two cases further shared hemangiomas, while one shared tonsil asymmetry and scoliosis) [1,7,13]. Scoliosis incidence with CIM ranges from 15 to 50% [12], and only 10.5% to 27.3% of those do not have syringomyelia [29].…”

“…Klippel-Trenaunay syndrome (KTS) is the rare, congenital, and abnormal development of blood vessels, bones, and soft tissues. With an estimated 1 in 100,000 cases worldwide [1] and 1 in 27,500 newborns [2] affected, there is no preference for race, gender, or hereditary pattern [3,4]. Features include port-wine stain birthmarks, tissue and bone overgrowth, and venous malformations [5].…”